Variation and Sequence data.

Amino acid / cDNA transcript / RNA variation.

The patient, or group of patients whose sequencing results are described by this resource.

Specimen used for sequencing.

The method for sequencing, for example, chip information.

Quantity of the sequence.

The organism from which sample of the sequence was extracted. Supporting tests of human, viruses, and bacteria.

Reference Sequence. It can be described in two ways. One is provide the unique identifier of reference sequence submitted to NCBI. The start and end position of window on reference sequence should be defined. The other way is using genome build, chromosome number,and also the start, end position of window (this method is specifically for DNA reference sequence) .

The chromosome containing the genetic finding. The value set will be 1-22, X, Y when the species is human without chromosome abnormality. Otherwise, NCBI-Gene code system should be used.

The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used.

Reference identifier of reference sequence submitted to NCBI. It must match the type in the Sequence.type field. For example, the prefix, “NG” identifies reference sequence for genes, “NM” for messenger RNA transcripts, and “NP_” for amino acid sequences.

A Pointer to another Sequence entity as refence sequence.

A Reference Sequence string.

0-based start position (inclusive) of the window on the reference sequence.

0-based end position (exclusive) of the window on the reference sequence.

Variation info in this sequence.

0-based start position (inclusive) of the variation on the reference sequence.

0-based end position (exclusive) of the variation on the reference sequence.

Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand.

Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the reference sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand.

Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation here .

Quality for sequence quality vary by platform reflecting differences in sequencing chemistry and digital processing.

0-based start position (inclusive) of the sequence.

0-based end position (exclusive) of the sequence.

Quality score.

Method for quality.

The level of occurrence of a single DNA Sequence Variation within a set of chromosomes. Heterozygous indicates the DNA Sequence Variation is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variation is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variation exists in the only single copy of a gene in a non- homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variation is present in all of the copies of mitochondrial DNA.

Allele frequencies.

Values: amplificaiton / deletion / LOH.

Coverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence.

Configurations of the external repository.

URI of an external repository which contains further details about the genetics data.

URI of an external repository which contains further details about the genetics data.

Id of the variation in this external repository.

Id of the read in this external repository.

Pointer to next atomic sequence which at most contains one variation.

Observed Sequence.

Analysis of the sequence.

Structural variant.

Precision of boundaries.

Structural Variant reported aCGH ratio.

Structural Variant Length.

Structural variant outer.

Structural Variant Outer Start-End.

Structural Variant Outer Start-End.

Structural variant inner.

Structural Variant Inner Start-End.

Structural Variant Inner Start-End.